Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review

D O'Shea, N Schmoke, C Porigow… - Journal of Pediatric …, 2023 - journals.lww.com
Infants born with esophageal atresia and tracheoesophageal fistula, a complex congenital
malformation occurring in 1/2500–4000 live births, may suffer threats to their cardiac …

Statistical models of the genetic etiology of congenital heart disease

G Zhong, Y Shen - Current opinion in genetics & development, 2022 - Elsevier
Congenital heart disease (CHD) is a collection of anatomically and clinically heterogeneous
structure anomalies of heart at birth. Finding genetic causes of CHD can not only shed light …

Primary cilia are critical for tracheoesophageal septation

LA Fitzsimons, E Tasouri, MA Willaredt… - Developmental …, 2024 - Wiley Online Library
Introduction Primary cilia play pivotal roles in the patterning and morphogenesis of a wide
variety of organs during mammalian development. Here we examined murine foregut …

Esophageal atresia with tracheoesophageal fistula is associated with consanguinity

R Nassar, O Hougui, M Zerem, M Omary, Z Assi… - The Journal of …, 2024 - Elsevier
Objective To examine the association between nonsyndromic esophageal atresia with
tracheoesophageal fistula (EA-TEF) and consanguinity. Study design A retrospective study …

Genomic Contributors to Esophageal Atresia and Tracheoesophageal Fistula: A 12 Year Retrospective Review

KT Wild, L Conlin, J Blair, M Manfredi… - The Journal of …, 2024 - Elsevier
Objective To evaluate genetic testing utilization and diagnostic yield in infants with
esophageal atresia (EA)/tracheoesophageal fistula (TEF) over the past 12 years to inform …

Long-term outcome of oesophageal atresia in adolescence (TransEAsome): a national French cohort study protocol

M Leroy, M Aumar, M Duhamel, L Dauchet, M Figeac… - BMJ open, 2025 - bmjopen.bmj.com
Introduction The TransEAsome project, funded by the Agence Nationale de la Recherche,
aims to evaluate the long-term outcomes of patients with oesophageal atresia (OA) between …

[PDF][PDF] Esophageal atresia with or without tracheoesophageal fistula: comorbidities, genetic evaluations, and neonatal outcomes

D Khattar, KR Suhrie, K Suhrie - Cureus, 2023 - cureus.com
Objective Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) has a
reported incidence of 1 in 3500 live births and requires intensive care and surgery. To …

Disrupted endosomal trafficking of the Vangl-Celsr polarity complex underlies congenital anomalies in trachea-esophageal morphogenesis

NA Edwards, SA Rankin, A Kashyap, A Warren… - bioRxiv, 2023 - biorxiv.org
The developmental basis of esophageal atresia and tracheoesophageal fistulas (EA/TEF),
life-threatening congenital anomalies where the embryonic foregut fails to properly separate …

Tracheoesophageal Fistula With Esophageal Atresia: A Case Series.

C Wolfe, A Jnah - Neonatal Network, 2024 - search.ebscohost.com
Tracheoesophageal fistula (TEF) with or without esophageal atresia (EA) results from
maldevelopment of the trachea and esophagus during maturation of the primitive foregut …

[引用][C] Molecular and genetic effect of coding variants in human

Y Zhao - 2024 - Columbia University